Medical Specialties Commons^™

Widespread Tau Seeding Activity At Early Braak Stages, Jennifer L. Furman, Jaime Vaquer-Alicea, Charles L. White, Nigel J. Cairns, Peter T. Nelson, Marc I. Diamond

Pathology and Laboratory Medicine Faculty Publications

Transcellular propagation of tau aggregates may underlie the progression of pathology in Alzheimer's disease (AD) and other tauopathies. Braak staging (B1, B2, B3) is based on phospho-tau accumulation within connected brain regions: entorhinal cortex (B1); hippocampus/limbic system (B2); and frontal and parietal lobes (B3). We previously developed a specific and sensitive assay that uses flow cytometry to quantify tissue seeding activity based on fluorescence resonance energy transfer (FRET) in cells that stably express tau reporter proteins. In a tauopathy mouse model, we have detected seeding activity far in advance of histopathological changes. It remains unknown whether individuals with AD also …

Neuropathological And Genetic Correlates Of Survival And Dementia Onset In Synucleinopathies: A Retrospective Analysis, David J. Irwin, Murray Grossman, Daniel Weintraub, Howard I. Hurtig, John E. Duda, Sharon X. Xie, Edward B. Lee, Vivianna M. Van Deerlin, Oscar L. Lopez, Julia K. Kofler, Peter T. Nelson, Gregory A. Jicha, Randy Woltjer, Joseph F. Quinn, Jeffery Kaye, James B. Leverenz, Debby Tsuang, Katelan Longfellow, Dora Yearout, Walter Kukull, C. Dirk Keene, Thomas J. Montine, Cyrus P. Zabetian, John Q. Trojanowski

Sanders-Brown Center on Aging Faculty Publications

Background

Great heterogeneity exists in survival and the interval between onset of motor symptoms and dementia symptoms across synucleinopathies. We aimed to identify genetic and pathological markers that have the strongest association with these features of clinical heterogeneity in synucleinopathies.

Methods

In this retrospective study, we examined symptom onset, and genetic and neuropathological data from a cohort of patients with Lewy body disorders with autopsy-confirmed α synucleinopathy (as of Oct 1, 2015) who were previously included in other studies from five academic institutions in five cities in the USA. We used histopathology techniques and markers to assess the burden of …

Practical Guide And Atlas For The Diagnosis Of Fungal Infections, Afia Zafar, Kauser Jabeen, Joveria Farooqi

Books

Laboratory diagnosis of fungal infections remains challenging in South East Asia as it is a neglected field in most diagnostic centres in the developing world. Initial microscopic examination of clinical specimens for the presence of fungal elements followed by growth and eventual identification of isolates up to genus and species levels are very basic and important services that must be provided by any clinical microbiology laboratory. These services have considerable impact on selection of appropriate antifungal therapy and ultimate reduction in morbidity and mortality. With the realisation of scarcity of this service and expertise in Pakistan, our group decided to …

Immunodeficiency-Associated Lymphoid Hyperplasia As A Cause Of Intussusception In A Case Of Activated Pi3k-Δ Syndrome., Daniel Mettman, Isabelle Thiffault, Chitra Dinakar, Carol J. Saunders

Manuscripts, Articles, Book Chapters and Other Papers

Activated PI3K-δ syndrome refers to a recently described primary immunodeficiency syndrome consisting of recurrent sinopulmonary infections, lymphadenopathy, mucosal lymphoid aggregates, increased susceptibility to Epstein-Barr virus and cytomegalovirus, and increased incidence of B-cell lymphomas. Variants in PIK3CD, which encodes the phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta isoform, enhance membrane association and kinase activity, resulting in increased signal transduction through the PI3K-Akt pathway. Whole-exome sequencing revealed a pathogenic PIK3CD variant in a patient with history of immunologic impairment, recurrent sinopulmonary infections, and lymphoid hyperplasia presenting as intussusception. This case illustrates that while lymphoid hyperplasia secondary to immunodeficiency is most often unsurprising and …

Readiness For Antimicrobial Resistance (Amr) Surveillance In Pakistan; A Model For Laboratory Strengthening, Dania Khalid Saeed, Rumina Hasan, Mahwish Naim, Afia Zafar, Erum Khan, Kauser Jabeen, Seema Irfan, Imran Ahmed Haq, Mohammad Zeeshan, Zabin Wajidali, Joveria Farooqi, Sadia Shakoor, Abdul Chagla, Jason Roy

Department of Pathology and Laboratory Medicine

Background: Limited capacity of laboratories for antimicrobial susceptibility testing (AST) presents a critical diagnostic bottleneck in resource limited countries. This paper aims to identify such gaps and to explore whether laboratory networks could contribute towards improving AST in low resource settings.
Methods: A self-assessment tool to assess antimicrobial susceptibility testing capacity was administered as a pre-workshop activity to participants from 30 microbiology laboratories in 3 cities in Pakistan. Data from public and private laboratories was analyzed and capacity of each scored in percentage terms. Laboratories from Karachi were invited to join a support network. A cohort of five laboratories that …

Phenotypic Low-Level Isoniazid Resistance As A Marker To Predict Ethionamide Resistance In Mycobacterium Tuberculosis, Salima Qamar, Joveria Q. Farooqi, Kausar Jabeen, Rumina Hasan

Department of Pathology and Laboratory Medicine

Background: Tuberculosis is one of the most prevalent diseases in Pakistan. Pakistan has the highest burden of MDR-TB in the Eastern Mediterranean region. Ethionamide is an anti-tuberculous drug frequently used to treat MDR-TB. Its drug susceptibility testing is not easily available in resource limited settings. Since it acts on the same target protein as isoniazid (inhA protein encoded by inhA gene), we sought to find out if phenotypic isoniazid resistance can be a marker of ethionamide resistance.
Materials and Methods: This was a retrospective observational study conducted at the Aga Khan University hospital section of microbiology. Data was retrieved between …

Utility Of Peripheral Film Findings And Its Correlation With Automated Analyzer - An Audit From Tertiary Care Hospital, Sidra Asad, Imran Ahmed, Natasha Ali

Department of Pathology and Laboratory Medicine

Background and Objective: With the advent of automated hematology analyzer, the use of traditional microscopy of blood film has become limited. The objective of our study was to determine the percentage of peripheral blood smear review in our institution in the era of automation and to identify reasons of manual review.
Materials and Methods: This was a prospective audit from January 1, 2015, to January 15, 2015. Consecutive complete blood count (CBC) samples and peripheral smear requests made up the sample size. All age groups and genders were included. CBCs were performed on Sysmex XE-5000. The variables to be analyzed …

Papillary Craniopharyngioma: A Clinicopathologic Study Of A Rare Entity From A Major Tertiary Care Center In Pakistan, Muhammad Usman Tariq, Nasir Ud Din, Zubair Ahmad, Wasim Memon

Department of Pathology and Laboratory Medicine

Background: Papillary craniopharyngioma (PCP) are uncommon variants of craniopharyngiomas (CP), which are benign epithelial neoplasms of the sellar and suprasellar region. Histologically, PCPs are typically composed of well-differentiated stratified squamous epithelium; however, focal variations are not uncommon. A distinction from other lesions of the region, despite being difficult to achieve due to the overlapping radiological and clinical features, is important for adequate treatment to be administered.
Objective: Our aim was to study the clinical and histological features of PCP with emphasis on features that are helpful in its distinction from other lesions that are similar in appearance.
Materials and Methods: …

Rapid Detection Of In Vitro Antituberculous Drug Resistance Among Smear-Positive Respiratory Samples Using Microcolony Detection-Based Direct Drug Susceptibility Testing Method, Irim Iftikhar, Seema Irfan, Joveria Farooqi, Zahida Azizullah, Rumina Hasan

Department of Pathology and Laboratory Medicine

Background: With the rise in multidrug-resistant tuberculosis, there is a search for newer techniques that will rapidly detect drug-resistant Mycobacterium tuberculosis. Although molecular techniques can detect resistance, culture is still considered gold standard, especially in resource-limited settings where quick, cheap, and easy techniques are needed. The aim of the study was to evaluate microcolony method thin layer agar (TLA) for quick detection of resistance against the first- and second-line antituberculous drugs in clinical isolates. This was a cross-sectional study performed at Aga Khan University Hospital.
Material and Methods: A total of 87 Z-N stain smear-positive pulmonary samples were received and …

Hematuria Without Microalbuminuria, Angela Ferguson, Vimal Chadha, Amy Wiebold, Uttam Garg

Posters

Background

Microabubiminuria is a condition in which small amounts of albumin are excreted in the urine without overt nephropathy. Based on the

American Diabetic Association classification, microalbuminuria is defined as urinary excretion of albumin of 30–300 mg per 24 hours or 20–200 mcg/min or 30–300 mcg/mg creatinine. Various conditions such as diabetes, hypertension, and impaired renal tubular reabsorption can lead to microalbuminuria. Microalbuminuria is an indicator and predictor of the development of overt nephropathy. If identified and treated early, overt nephropathy can be prevented and averted. Proteinuria and hematuria are the two most common urinary abnormalities encountered during routine urinalysis. …

Proteoglycan Neofunctions: Regulation Of Inflammation And Autophagy In Cancer Biology., Liliana Schaefer, Claudia Tredup, Maria A. Gubbiotti, Renato V. Iozzo

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

Inflammation and autophagy have emerged as prominent issues in the context of proteoglycan signaling. In particular, two small, leucine-rich proteoglycans, biglycan and decorin, play pivotal roles in the regulation of these vital cellular pathways and, as such, are intrinsically involved in cancer initiation and progression. In this minireview, we will address novel functions of biglycan and decorin in inflammation and autophagy, and analyze new emerging signaling events triggered by these proteoglycans, which directly or indirectly modulate these processes. We will critically discuss the dual role of proteoglycan-driven inflammation and autophagy in tumor biology, and delineate the potential mechanisms through which …

Pediatric Ovarian Growing Teratoma Syndrome., Rebecca M. Rentea, Aaron Varghese, Atif Ahmed, Alexander Kats, Michelle Manalang, Tazim Dowlut-Mcelroy, Richard J. Hendrickson

Manuscripts, Articles, Book Chapters and Other Papers

Ovarian immature teratoma is a germ cell tumor that comprises less than 1% of ovarian cancers and is treated with surgical debulking and chemotherapy depending on stage. Growing teratoma syndrome (GTS) is the phenomenon of the growth of mature teratoma elements with normal tumor markers during or following chemotherapy for treatment of a malignant germ cell tumor. These tumors are associated with significant morbidity and mortality due to invasive and compressive growth as well as potential for malignant transformation. Current treatment modality is surgical resection. We discuss a 12-year-old female who presented following resection of a pure ovarian immature teratoma …

Yap And The Hippo Pathway In Pediatric Cancer., Atif Ahmed, Abdalla D. Mohamed, Melissa Gener, Weijie Li, Eugenio Taboada

Manuscripts, Articles, Book Chapters and Other Papers

The Hippo pathway is an important signaling pathway that controls cell proliferation and apoptosis. It is evolutionarily conserved in mammals and is stimulated by cell-cell contact, inhibiting cell proliferation in response to increased cell density. During early embryonic development, the Hippo signaling pathway regulates organ development and size, and its functions result in the coordinated balance between proliferation, apoptosis, and differentiation. Its principal effectors, YAP and TAZ, regulate signaling by the embryonic stem cells and determine cell fate and histogenesis. Dysfunction of this pathway contributes to cancer development in adults and children. Emerging studies have shed light on the upregulation …

High Resolution Melting: A Useful Field-Deployable Method To Measure Dhfr And Dhps Drug Resistance In Both Highly And Lowly Endemic Plasmodium Populations, Yaye Dié Ndiaye, Cyrille K. Diédhiou, Amy K. Bei, Baba Dieye, Aminata Mbaye, Nasserdine Papa Mze, Rachel F. Daniels, Ibrahima M. Ndiaye, Awa B. Déme, Amy Gaye, Mouhamad Sy, Tolla Ndiaye, Aida S. Badiane, Mouhamadou Ndiaye, Zul Premji, Dyann F. Wirth, Souleymane Mboup, Donald Krogstad, Sarah K. Volkman, Ambroise D. Ahouidi, Daouda Ndiaye

Pathology, East Africa

Background: Emergence and spread of drug resistance to every anti-malarial used to date, creates an urgent need for development of sensitive, specifc and feld-deployable molecular tools for detection and surveillance of validated drug resistance markers. Such tools would allow early detection of mutations in resistance loci. The aim of this study was to compare common population signatures and drug resistance marker frequencies between two populations with diferent levels of malaria endemicity and history of anti-malarial drug use: Tanzania and Sénégal. This was accomplished by implementing a high resolution melting assay to study molecular markers of drug resistance as compared to …

Reference Intervals For Thyroid Stimulating Hormone And Free Thyroxine Derived From Neonates Undergoing Routine Screening For Congenital Hypothyroidism At A University Teaching Hospital In Nairobi, Kenya: A Cross Sectional Study, Geoffrey Omuse, Ali Kassim, Francis Kiigu, Ra'ana Hussain, Mary Limbe

Pathology, East Africa

Background: In order to accurately interpret neonatal thyroid function tests (TFTs), it is necessary to have population specific reference intervals (RIs) as there is significant variation across different populations possibly due to genetic, environmental or analytical issues. Despite the importance of RIs, globally there are very few publications on RIs for neonatal TFTs primarily due to ethical and technical issues surrounding recruitment of neonates for a prospective study. To the best of our knowledge, this is the first report from Africa on neonatal RIs for TFTs.

Methods: We used hospital based data largely derived from neonates attending the wellness clinic …

Urolithiasis Analysis In A Multiethnic Population At A Tertiary Hospital In Nairobi, Kenya, Francis Kiigu, Alfred Hayombe, Daniel Maina

Pathology, East Africa

Background: Urolithiasis is a global problem whose incidence is reported to be on the rise across the world. Previously, urolithiasis was reported as being rare among the indigenous African population but recent data suggest otherwise. This study reviewed the demographic and clinical characteristics of patients with urolithiasis seen at the Aga Khan University hospital Nairobi (AKUHN) as well as the chemical composition of the stones and the modalities of therapy used.

Methods: This was a retrospective study which utilized patients’ clinical and laboratory records from 2013 to 2014. Sixty-seven symptomatic patients with confrmed urolithiasis formed the study. This study aimed …

Hematological Disorders And Pulmonary Hypertension, Rajamma Mathew, Jing Huang, Joseph M. Wu, John T. Fallon, Michael H. Gewitz

NYMC Faculty Publications

Pulmonary hypertension (PH), a serious disorder with a high morbidity and mortality rate, is known to occur in a number of unrelated systemic diseases. Several hematological disorders such as sickle cell disease, thalassemia and myeloproliferative diseases develop PH which worsens the prognosis. Associated oxidant injury and vascular inflammation cause endothelial damage and dysfunction. Pulmonary vascular endothelial damage/dysfunction is an early event in PH resulting in the loss of vascular reactivity, activation of proliferative and antiapoptotic pathways leading to vascular remodeling, elevated pulmonary artery pressure, right ventricular hypertrophy and premature death. Hemolysis observed in hematological disorders leads to free hemoglobin which …

Simplified Antibiotic Regimens For Treatment Of Clinical Severe Infection In The Outpatient Setting When Referral Is Not Possible For Young Infants In Pakistan (Simplified Antibiotic Therapy Trial [Satt]): A Randomised, Open-Label, Equivalence Trial, Fatima Mir, Imran Nisar, Shiyam S. Tikmani, Benazir Baloch, Sadia Shakoor, Fyezah Jehan, Imran Ahmed, Simon Cousens, Anita K M Zaidi

Department of Paediatrics and Child Health

Background: Parenteral antibiotic therapy for young infants (aged 0–59 days) with suspected sepsis is sometimes not available or feasible in countries with high neonatal mortality. Outpatient treatment could save lives in such settings. We aimed to assess the equivalence of two simplified antibiotic regimens, comprising fewer injections and oral rather than parenteral administration, compared with a reference treatment for young infants with clinical severe infection.
Methods: We undertook the Simplified Antibiotic Therapy Trial (SATT), a three-arm, randomised, open-label, equivalence trial in five communities in Karachi, Pakistan. We enrolled young infants (aged 0–59 days) who either presented at a primary health-care …

Erratum To: Neonatal Hyperbilirubinemia In Infants With G6pd C.563c>T Variant, Bushra Moiz, Amna Nasir, Sarosh Ahmed Khan, Saleema Amin Kherani, Maqbool Qadir

Department of Pathology and Laboratory Medicine

No abstract provided.

Labrad : Vol 42, Issue 3 - December 2016, Aga Khan University Hospital, Karachi

LABRAD - Departments of Pathology & Laboratory Medicine and Radiology Archives

• Provocative Testing for Growth Hormone Disorders
• Serum Procalcitonin for Early Sepsis Diagnosis
• Monoclonal Gammopathy of Undetermined Significance (MGUS)
• Understanding Six Sigma Methodology
• Blood Collection for Culture
• Molecular Analysis of Alpha Thalassaemia by Multiple Ligation Probe Assay
• Prognostification of Acute Myeloid Leukemia with FLT 3 Mutation
• Interferon Gamma Release Assay (IGRA) for Detection of Mycobacterium Tuberculosis Infection in the Host
• An Analysis of Needle Stick Injury in the Department of Radiology

The Humoral Theory Of Transplantation: Epitope Analysis And The Pathogenicity Of Hla Antibodies., Edward J Filippone, John Farber

Department of Medicine Faculty Papers

Central to the humoral theory of transplantation is production of antibodies by the recipient against mismatched HLA antigens in the donor organ. Not all mismatches result in antibody production, however, and not all antibodies are pathogenic. Serologic HLA matching has been the standard for solid organ allocation algorithms in current use. Antibodies do not recognize whole HLA molecules but rather polymorphic residues on the surface, called epitopes, which may be shared by multiple serologic HLA antigens. Data are accumulating that epitope analysis may be a better way to determine organ compatibility as well as the potential immunogenicity of given HLA …

Mycobacterial Contamination Of Bronchoscopes: Challenges And Possible Solutions In Low Resource Settings, Dania Khalid Saeed, Sadia Shakoor, Seema Irfan, Rumina Hasan

Department of Pathology and Laboratory Medicine

The use of bronchoscopes has increased in tuberculosis (TB) diagnostics to circumvent the diagnostic challenges that are associated with low sputum volume and smear-negative TB. In healthcare facilities situated in low income countries that have a high burden of TB, adequate decontamination of bronchoscopes is a challenge and often overlooked to save on time and costs. This amplifies the risk of outbreaks and pseudo-outbreaks due to Mycobacterium tuberculosis and nontuberculosis mycobacteria. In this minireview, we review published literature of contaminated bronchoscopes causing pseudo-outbreaks of M. tuberculosis and nontuberculosis mycobacteria in an effort to determine common sources, and possible mitigation strategies …

Massive Pulmonary Embolism Presenting As Seizures, Shahrukh Hashmani, Fateh Ali Tipoo Sultan, Murtaza Kazmi, Amammarah Yasmeen

Department of Pathology and Laboratory Medicine

Pulmonary embolism can present in various ways, though seizure activity has been rarely reported. We report a 38 years old male who had met a road traffic accident, underwent surgery, presented a month later with seizures, chest pain, shortness of breath and low blood pressure. Massive pulmonary embolism was diagnosed on CTPA, with classical features on ECG and echocardiogram and the patient was successfully managed with thrombolysis. Massive pulmonary embolism (MPE) should be kept in mind in patients who present with seizures, chest pain and haemodynamic instability.

Alternate Efflux Pump Mechanism May Contribute To Drug Resistance In Extensively Drug-Resistant Isolates Of Mycobacterium Tuberculosis, Akbar Kanji, Rumina Hasan, Ambreen Zaver, Asho Ali, Kehkashan Imtiaz, Mussarat Ashraf, Taane G. Clark, Ruth Mc Nerney, Samreen Shafiq, Zahra Hasan

Department of Pathology and Laboratory Medicine

No abstract provided.

Effect Of Time Duration Of Digestion/Decontamination Technique On Yield Of Mycobacteria And Contamination Rates From Sterile Body Fluids (Pleural And Ascitic Fluid) And Pus Specimens, Samreen Shafiq, Faryal Saleem, Kauser Jabeen, Joveria Farooqi, Warda Alam, Sadia Hanif, Shazia Ali, Sadia Shakoor, Rumina Hasan

Department of Pathology and Laboratory Medicine

Background:
Duration of digestion/decontamination has a considerable impact on yield of mycobacteria especially from sterile body fluids and pus specimens. Additionally, duration of digestion/decontamination affects the contamination rates. This study evaluates the effect of digestion/decontamination protocol for 15 and 20min versus inoculation of media directly from the sample on contamination rates as well as the yield of mycobacteria from pus and sterile fluids other than cerebrospinal fluids.
Methods:
Pleural fluid (n=60), pus (n=48) and ascitic fluid (n=12) specimens were cultured for mycobacteria and evaluated for contamination and mycobacterial yield using three different processing methodologies: without digestion/decontamination with 5% NaOH-NALC (D/D), …

Pulmonary Infections After Tuberculosis, Kauser Jabeen

Department of Pathology and Laboratory Medicine

Aims and Objective: Despite effective treatment of pulmonary tuberculosis (TB) patients, destruction of lung parenchyma may lead to complications including repeated infections. These infections are often misdiagnosed or wrongly identified as TB recurrence, and hence are not treated effectively. The frequency and severity of these infections vary with the extent of damage, and are much more prominent in patients with post-TB bronchiectasis and fibrocavitary diseases. This presentation will focus on the epidemiology, treatment, and management of post-TB infections and challenges, and the impact of these infections on public health in high-TB-burden countries.
Methods: Published literature and review articles were evaluated …

Tuberculosis In Vulnerable Populations In Eastern Mediterranean Region-Implications For Control, Sadia Shakoor, Rumina Hasan

Department of Pathology and Laboratory Medicine

Objectives: Socially and economically disadvantaged or "vulnerable" people are at high risk of tuberculosis (TB) and also contribute to active chains of TB transmission. Included in such vulnerable populations are children, women, prisoners, people living with human immunodeficiency virus, the homeless, and displaced people. The ongoing active transmission of TB among such populations is made more difficult to assess and control by difficult access, health inequities, poverty, and other chronic and debilitating health conditions at individual, domestic, and community levels.
Methods: The 22 Eastern Mediterranean Region member states encompass diverse sociopolitical and socioeconomic situations with far-reaching effects on vulnerable populations …

Stars In Cytoplasm: Pediatric Neuroblastoma, Monazza Chaudhary, Shahzad Sarwar, Natasha Bahadur Ali

Section of Haematology/Oncology

We report a case of a 2-year-old female child who presented with abdominal distention and fever. On examination, there was a palpable mass in the right hypochondrium. Computed tomography of the abdomen revealed a large mass in the right suprarenal area. Biopsy of the mass revealed malignant round blue cell neoplasm. Bone marrow examination showed diffuse infiltration with atypical mononuclear cells and cytogenetic studies showed positivity for NMyc translocation.

Secretory Paraspinal Paraganglioma Of Thoracolumar Spine: Case Report And Review Of Literature, Saad Akhtar, Sidra Sattar, Muhammad Ehsan Bari, Naila Kayani, Sarosh Moeen

Section of Neurosurgery

Background: Pheochromocytomas are catecholamine secreting tumors of the adrenal medulla chromaffin cells, however, when present extra-adrenally they are called paragangliomas. Paragangliomas rarely produce catecholamine in excess, which is evident by clinical symptoms, urine, and blood biochemistry. Total resection of these tumors can lead to complete clinical and biochemical resolution. This case report presents the clinical features, radiological findings, and neurological outcome in a middle-aged female with a secretory paraganglioma.
Case description: We present the case of a 34-year-old female who presented with a 2-year history of dizziness, flushing, headache, palpitations, and hypertension. Her blood workup showed raised urinary catecholamine levels. …

Functional Validation Of Novel Compound Heterozygous Variants In B3gat3 Resulting In Severe Osteopenia And Fractures: Expanding The Disease Phenotype., Florian Job, Shuji Mizumoto, Laurie Smith, Natario Couser, Ashley Brazil, Howard Saal, Melanie Patterson, Margaret Gibson, Sarah E. Soden, Neil A. Miller, Isabelle Thiffault, Carol J. Saunders, Shuhei Yamada, Katrin Hoffmann, Kazuyuki Sugahara, Emily G. Farrow

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: A new disease class of syndromes, described as linkeropathies, which are derived from defects in the glycosaminoglycan-linker region as well as glycosaminoglycan-side chains of proteoglycans is increasingly being recognized as a cause of human disease. Proteoglycans are an essential component of the extracellular matrix. Defects in the enzymatic process of proteoglycan synthesis broadly occur due to the incorrect addition of side chains. Previously, homozygous missense variants within the B3GAT3 gene encoding beta 1,3 glucuronyltransferase 3(GlcAT-I) responsible for the biosynthesis of glycosaminoglycans have been described in 7 individuals.

CASE PRESENTATION: In this study, a 4-year-old patient with a severe phenotype …